Elsner H A, Drábek J, Rebmann V, Ambruzova Z, Grosse-Wilde H, Blasczyk R
Department of Transfusion Medicine, Hannover Medical School, Hannover, Germany.
Tissue Antigens. 2001 Apr;57(4):369-72. doi: 10.1034/j.1399-0039.2001.057004369.x.
The identification of the "blank" allele HLA-B5111N, which was detected in German and Czech individuals, is described. In the pedigree analysis this new allele segregates with the serological haplotype HLA-A2; B-; DR4 which is frequent in Czech population. The non-expression of B5111N is caused by the insertion of an additional cytosine molecule at the cytosine island between the nucleotides 621-626 (codons 183-185, first three codons of exon 4) leading to a frame shift that creates a stop codon at codon 196. This insertion may be explained either by conversion with the pseudogene HLA-J or by slipped-strand mispairing. In order not to overlook the presence of alleles with altered expression in case of hematopoietic stem cell transplantation, both serological and DNA-based typing should be performed (Note).
本文描述了在德国人和捷克人个体中检测到的“空白”等位基因HLA - B5111N。在系谱分析中，这个新等位基因与血清学单倍型HLA - A2; B -; DR4连锁，该单倍型在捷克人群中较为常见。B5111N不表达是由于在核苷酸621 - 626（密码子183 - 185，外显子4的前三个密码子）之间的胞嘧啶岛处插入了一个额外的胞嘧啶分子，导致移码，在密码子196处产生了一个终止密码子。这种插入可能是由与假基因HLA - J的转换或滑链错配引起的。为了在造血干细胞移植时不忽略表达改变的等位基因的存在，应同时进行血清学和基于DNA的分型（注意）。
